Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia
نویسندگان
چکیده
منابع مشابه
Different phenotypic expression in monozygotic twins with Huntington disease.
Monozygotic (MZ), 46-year-old, male twins, carrying the same Huntington disease (HD) mutation, presented with a different clinical course. In one of the twins, the disease process started at the age of 32 years with chorea, dysarthria, and a depressed mood. Over 14 years, the disease progressed to total functional dependence. The second twin presented at age 35 with gait disturbances. His behav...
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BACKGROUND Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS We reviewed the literature concerning the molecular diagnosis of HD. RESULTS The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagno...
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Rigidity and dystonia in Huntington disease (HD) are associated with atrophy of the caudate nucleus and putamen (B). Extensive neuronal loss and gliosis in the cerebral cortex (A,C) in both HD and Alzheimer disease (AD) are responsible for varying degrees of cognitive impairment (however, neurofibrillary tangles and senile plaques are seen only in AD). Understanding a rare genetic disorder can ...
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Huntington's disease (HD) is thought to be due to genetically-programmed degeneration of neurons in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbances. It is along time since the disease started tormenting human beings, and to date, conventional medications have failed to slow down the progression of HD. ...
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There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done befor...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2020
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000505887